Canonical Allele Identifier: CA362376629

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177035912T>C (hg19) ; chr5:g.177608911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608911T>C , CM000667.2:g.177608911T>C	GRCh38
NC_000005.9:g.177035912T>C , CM000667.1:g.177035912T>C	GRCh37
NC_000005.8:g.176968518T>C	NCBI36
NG_015977.1:g.13794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.725T>C MANE Select	ENSP00000029410.5:p.Leu242Pro
ENST00000029410.9:c.725T>C	ENSP00000029410.5:p.Leu242Pro
ENST00000505145.1:n.1823T>C
ENST00000505433.5:c.*231T>C	ENSP00000425591.1:n.*231T>C
ENST00000515353.1:n.1547T>C
NM_007255.2:c.725T>C	NP_009186.1:p.Leu242Pro
XM_005265805.2:c.383T>C	XP_005265862.1:p.Leu128Pro
XM_006714816.2:c.245T>C	XP_006714879.1:p.Leu82Pro
XM_011534421.1:c.383T>C	XP_011532723.1:p.Leu128Pro
XM_006714816.4:c.245T>C	XP_006714879.1:p.Leu82Pro
XM_017008999.2:c.383T>C	XP_016864488.1:p.Leu128Pro
NM_007255.3:c.725T>C MANE Select	NP_009186.1:p.Leu242Pro